Extending the Phenotype Related to Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development.

Background: Expand the knowledge about the clinical phenotypes associated with pathogenic or likely pathogenic variants in the gene.

Methods: The study was carried out in 15 patients with variants. The complete phenotype of the patients was evaluated.

Drug load and memory during intracarotid amobarbital procedure in epilepsy.

Background: Anti-seizure medications (ASMs) have been related to poor cognitive function, but their relationship with intracarotid amobarbital procedure (IAP) results remains unclear.

Aims Of The Study: To elucidate whether the number and drug load of ASMs are associated with memory scores of the IAP and the neuropsychological assessment.

Methods: Fifty-nine adult patients with drug-resistant epilepsy (mean age = 36.

Comorbidity between sleep apnea and insomnia.

The association between insomnia and sleep apnea has received little attention from health professionals in the past few decades. However, recent studies have shown a high prevalence of insomnia complaints in patients with objectively diagnosed obstructive sleep apnea (OSA) syndrome. In this paper we have reviewed data published on different aspects of this association: the clinical profile of sleep-disordered breathing (SDB)-plus, the nature of the association, the role in the onset of insomnia played by OSA itself and other comorbidity factors such as depression or the restless leg syndrome.